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  • PedsCases CF Note (SP Edit)

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    Mehtab Alam
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    CF is an autosomal recessive genetic condition caused by mutations in the CFTR gene, most commonly the F508 deletion. This results in dysfunctional CFTR protein in epithelial cells, dysregulating chloride and sodium transport and decreasing airway surface liquid. Clinical manifestations include progressive respiratory disease with chronic infections, pancreatic insufficiency leading to malabsorption, and other issues like failure to thrive. Diagnosis is confirmed via newborn screening, sweat chloride tests, and genetic testing. Management focuses on airway clearance, nutrition, pancreatic enzyme supplementation, and treatments to address infections and complications.

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    PedsCases CF Note [SP edit] (1)

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    CF is an autosomal recessive genetic condition caused by mutations in the CFTR gene, most commonly the F508 deletion. This results in dysfunctional CFTR protein in epithelial cells, dysregulating chloride and sodium transport and decreasing airway surface liquid. Clinical manifestations include progressive respiratory disease with chronic infections, pancreatic insufficiency leading to malabsorption, and other issues like failure to thrive. Diagnosis is confirmed via newborn screening, sweat chloride tests, and genetic testing. Management focuses on airway clearance, nutrition, pancreatic enzyme supplementation, and treatments to address infections and complications.

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    11 views1 page

    PedsCases CF Note (SP Edit)

    Uploaded by

    Mehtab Alam
    CF is an autosomal recessive genetic condition caused by mutations in the CFTR gene, most commonly the F508 deletion. This results in dysfunctional CFTR protein in epithelial cells, dysregulating chloride and sodium transport and decreasing airway surface liquid. Clinical manifestations include progressive respiratory disease with chronic infections, pancreatic insufficiency leading to malabsorption, and other issues like failure to thrive. Diagnosis is confirmed via newborn screening, sweat chloride tests, and genetic testing. Management focuses on airway clearance, nutrition, pancreatic enzyme supplementation, and treatments to address infections and complications.

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    of 1

    CYSTIC FIBROSIS

    CF is an autosomal recessive genetic condition characterized by mutations of the cystic fibrosis


    transmembrane conductance regulator (CFTR) gene found on chromosome 7. The most common
    mutation is delta F508 deletion.

    PATHOPHYSIOLOGY EPIDEMIOLOGY
    Dysfunction of the CFTR protein found in epithelial cells of Most prevalent in
    respiratory, gastrointestinal, reproductive system & sweat glands ⇢ Caucasians ⇢ ~ 1 in
    dysregulation of chloride, bicarbonate, & sodium channel transport every 3000 – 3500 live
    ⇢ ↓ H2O concentration of secretions ⇢ impaired clearance births

    CLINICAL MANIFESTATIONS

    Respiratory Gastrointestinal Other

    • Progressive disease with • Intestinal obstruction • Failure to thrive


    intermittent acute • Steatorrhea • Delayed puberty & infertility
    exacerbations • Pancreatic insufficiency, • Dehydration & sodium
    • Mucous plugging ⇢ chronic initially exocrine ⇢ depletion
    airway inflammation & eventually also endocrine • Stress incontinence
    infections ⇢ bronchiectasis (CF related diabetes) • Low bone mineral density
    • Common pathogens: S. • Fat soluble vitamin • Clubbing
    aureus, H. influenza, P. deficiencies (ADEK)
    aeruginosa, B. cepacia • CF related liver disease

    INVESTIGATIONS

    Newborn screening test Sweat chloride test CF genetic testing

    MANAGEMENT
    • Airway clearance • Nutrition to maintain BMI • CFTR modulator therapies
    techniques: chest >50th percentile • Routine immunizations
    physiotherapy, nebulized • Pancreatic enzyme • Exposure avoidance
    hypertonic saline, dornase supplementation (no contact with other
    alfa • Fat soluble vitamin individuals with CF; no hot
    • Regular pulmonary function supplementation (ADEK) tubs or humidifiers)
    tests • Increased salt intake • Mental health screening
    • Lung transplantation • Oral glucose tolerance tests (patient & family)

    Published February 2021


    Vanessa Warren (Medical Student 2021, Northern Ontario School of Medicine) & Dr. Gautam Kumar (General
    Pediatrician, Northern Ontario School of Medicine) for www.pedscases.com

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